ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp)

gnomAD frequency: 0.00004  dbSNP: rs777638253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659781 SCV000781633 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV003128720 SCV003805994 uncertain significance not provided 2023-02-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV003753150 SCV004459869 benign Kabuki syndrome 2023-08-30 criteria provided, single submitter clinical testing

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